Not as rare as we once thought, SCN2A-related disorders (SRD) affect approximately 1/10,000 people worldwide. Over the past five years, SRDs have been identified as the leading single gene cause of neurodevelopmental disorders.
Common symptoms of SRD include:
- Infantile seizures
- Developmental and intellectual disabilities
Most patients suffer from a myriad of comorbidities such as:
- movement disorders
- GI and feeding difficulties
- visual impairment
There is a spectrum of severity, but no matter what end the patient falls on, they live a life of dependency on others. We need a cure and our children are counting on us to find one.
Precision medicine is coming!
The field of precision medicine, gene therapies, and curing the uncurbable is progressing fast. We want to be ready and so we are funding critical research that will position us as an attractive target for drug development companies.
You can help us.
Please help us help our children by participating in the Million Dollar Bike Ride. With the Orphan Disease Center's match of $30,000, we can make a HUGE impact on research. Please join us in riding for a cure!
The Penn Medicine Orphan Disease Center hosts this event to raise money for research in rare diseases. Please consider donating to our cause and being a part of transformative research. 100% of your donation will go towards rare disease research.
Team Members 19